The future is here: Integrating genetics into the pediatric pulmonary clinic.
Pediatr Pulmonol
; 55(7): 1810-1818, 2020 07.
Article
em En
| MEDLINE
| ID: mdl-32533912
ABSTRACT
Recognition of underlying genetic etiologies of disease is increasing at an exponential rate, likely due to greater access to and lower cost of genetic testing. Monogenic causes of disease, or conditions resulting from a mutation or mutations in a single gene, are now well recognized in every subspecialty, including pediatric pulmonary medicine; thus, it is important to consider genetic conditions when evaluating children with respiratory disease. In the pediatric pulmonary clinic, genetic testing should be considered when multiple family members present with similar or related clinical features and when individuals have unusual clinical presentations, such as early-onset disease or complex, syndromic features. This review provides a practical guide for genetic diagnosis in the pediatric pulmonary setting, including a review of genetic concepts, considerations for test selection and results in interpretation, as well as an overview of genetic differential diagnoses for common pediatric pulmonary phenotypes. Genetic conditions that commonly present to the pediatric pulmonary clinic are reviewed in a companion article by Yonker et al.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Contexto em Saúde:
2_ODS3
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Pneumopatias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Humans
Idioma:
En
Revista:
Pediatr Pulmonol
Ano de publicação:
2020
Tipo de documento:
Article